# isolated microphthalmia 8

> microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has material basis in homozygous mutation in the ALDH1A3 gene on chromosome 15q26

**Wikidata**: [Q28065645](https://www.wikidata.org/wiki/Q28065645)  
**Source**: https://4ort.xyz/entity/isolated-microphthalmia-8


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)